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American Journal of Medical Genetics. Part A|February 14, 2024
A case report on deficiency of adenosine deaminase 2 with relapse-remission course and analysis of genotype-phenotype correlationQianyun Cai, Fan Feng, Yanmei Tian, et al.
BMC Pediatrics|February 3, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature reviewNuo Yang, Limin Chen, Yanfeng Zhang, et al.
Molecular Genetics & Genomic Medicine|January 23, 2023
A novel variant in BCL11B in an individual with neurodevelopmental delay: A case reportYonglin Yu, Xiaoyi Jia, Hongwei Yin, et al.
Molecular Genetics & Genomic Medicine|August 13, 2022
A homozygous variant of WDR45B results in global developmental delay: Additional case and literature reviewJinhong Zhang, Yan Lu, Xiaoyu Tian, et al.
Molecular Genetics & Genomic Medicine|July 30, 2022
Pyridoxine-responsive KCNQ2 epileptic encephalopathy: Additional cases and literature reviewJun Chen, Qiuji Tao, Lijuan Fan, et al.
Molecular Genetics & Genomic Medicine|February 10, 2024
Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cystsJian Zha, Yong Chen, Fangfang Cao, et al.
Frontiers in Genetics|March 31, 2022
Bioinformatics Analysis Reveals Cell Cycle-Related Gene Upregulation in Ascending Aortic Tissues From Murine ModelsXiaoping Zhang, Zuozhen Yang, Xiaoyan Li, et al.
Medicine|April 9, 2021
De Novo mutation of FOXF1 causes alveolar capillary dysplasia with misalignment of pulmonary veins: A case reportLili Deng, Xingzhu Liu, Jieqing Min, et al.
Clinical Genetics|December 11, 2025
Clinical Characteristics and Treatment Outcomes in Children With Non-Acquired Epilepsy: A Cohort Study Based on Genetic FindingsJia Zhang, Xiaoqian Wang, Xueyi Rao, et al.
Translational Pediatrics|October 17, 2022
Treating <i>GNAO1</i> mutation-related severe movement disorders with oxcarbazepine: a case reportWeihao Ling, Danping Huang, Fan Yang, et al.
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